ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)

gnomAD frequency: 0.00032  dbSNP: rs200728478
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192832 SCV000248828 likely benign not specified 2021-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000861897 SCV000515611 benign not provided 2019-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720125 SCV000851002 likely benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001087432 SCV001002311 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-11-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861897 SCV001145510 benign not provided 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861897 SCV001148744 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000861897 SCV001954810 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000861897 SCV001975204 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.